MyMedR

Fulltext PRKAR1A-negative familial Cushing's syndrome: two case reports

Lim LL, Kitan N, Paramasivam SS, Ratnasingam J, Ibrahim L, Chan SP, et al.

J Med Case Rep, 2015;9:277.

PMID: 26619967 DOI: 10.1186/s13256-015-0757-7

Determining the etiology of Cushing's syndrome is very challenging to endocrinologists, with most of the difficulty arising from subtype differentiation of adrenocorticotropic hormone-dependent Cushing's syndrome. We present the pitfalls of evaluating a rare cause of adrenocorticotropic hormone-independent Cushing's syndrome in the transition period between adolescence and adulthood.

Fulltext Systematic Epstein-Barr virus-positive T-cell lymphoproliferative disease presenting as a persistent fever and cough: a case report

Ameli F, Ghafourian F, Masir N

J Med Case Rep, 2014;8:288.

PMID: 25163591 DOI: 10.1186/1752-1947-8-288

Systemic Epstein-Barr virus-positive T-cell lymphoproliferative childhood disease is an extremely rare disorder and classically arises following primary acute or chronic active Epstein-Barr virus infection. It is characterized by clonal proliferation of Epstein-Barr virus-infected T-cells with an activated cytotoxic phenotype. This disease has a rapid clinical course and is more frequent in Asia and South America, with relatively few cases being reported in Western countries. The clinical and pathological features of the disease overlap with other conditions including infectious mononucleosis, chronic active Epstein-Barr virus infection, hemophagocytic lymphohistiocytosis and natural killer cell malignancies. We describe the rare case of systemic Epstein-Barr virus-positive T-cell lymphoproliferative childhood disease in a 16-year-old Malay boy.

Fulltext Infratentorial benign cystic meningioma mimicking a hemangioblastoma radiologically and a pilocytic astrocytoma intraoperatively: a case report

Guan TK, Pancharatnam D, Chandran H, Hooi TK, Kumar G, Ganesan D

J Med Case Rep, 2013;7:87.

PMID: 23537099 DOI: 10.1186/1752-1947-7-87

Cystic meningiomas are rare variants of meningiomas; they can pose a radiological diagnostic dilemma.

Fulltext Cerebral venous sinus thrombosis presenting with diplopia in pregnancy: a case report

Munira Y, Sakinah Z, Zunaina E

J Med Case Rep, 2012;6:336.

PMID: 23034080 DOI: 10.1186/1752-1947-6-336

Fulltext Chronic necrotizing pulmonary aspergillosis presenting as bilateral pleural effusion: a case report

Rajalingham S, Anshar FM

J Med Case Rep, 2012;6:62.

PMID: 22333492 DOI: 10.1186/1752-1947-6-62

Chronic necrotizing pulmonary aspergillosis is an uncommon subacute form of Aspergillus infection. It typically occurs in immunocompromised individuals and in those with underlying lung disease. This interesting case highlights the occurrence of this entity of aspergillosis in an immunocompetent middle-aged woman with atypical radiological findings. To the best of our knowledge this is the first case report of chronic necrotizing pulmonary aspergillosis presenting with pleural effusion.

Management of visual disturbances in albinism: a case report

Omar R, Idris SS, Meng CK, Knight VF

J Med Case Rep, 2012;6:316.

PMID: 22992390

A number of vision defects have been reported in association with albinism, such as photophobia, nystagmus and astigmatism. In many cases only prescription sunglasses are prescribed. In this report, the effectiveness of low-vision rehabilitation in albinism, which included prescription of multiple visual aids, is discussed.

Fulltext Hemolytic disease of the fetus and newborn caused by anti-D and anti-S alloantibodies: a case report

Yousuf R, Abdul Aziz S, Yusof N, Leong CF

J Med Case Rep, 2012;6:71.

PMID: 22348809 DOI: 10.1186/1752-1947-6-71

Hemolytic disease of the fetus and newborn is most commonly caused by anti-D alloantibody. It is usually seen in Rhesus D (RhD)-negative mothers that have been previously sensitized. We report here a case of hemolytic disease of the fetus and newborn in a newborn baby caused by anti-D and anti-S alloantibodies, born to a mother who was RhD negative, but with no previous serological evidence of RhD alloimmunization.

Fulltext Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report

Mohd Fadley MA, Ismail A, Thong MK, Yusoff NM, Zakaria Z

J Med Case Rep, 2012;6:30.

PMID: 22269667 DOI: 10.1186/1752-1947-6-30

Chromosomal aberrations of chromosome 16 are uncommon and submicroscopic deletions have rarely been reported. At present, a cytogenetic or molecular abnormality can only be detected in 55% of Rubinstein-Taybi syndrome patients, leaving the diagnosis in 45% of patients to rest on clinical features only. Interestingly, this microdeletion of 16 p13.3 was found in a young child with an unexplained syndromic condition due to an indistinct etiological diagnosis. To the best of our knowledge, no evidence of a microdeletion of 16 p13.3 with contiguous gene deletion, comprising cyclic adenosine monophosphate-response element-binding protein and tumor necrosis factor receptor-associated protein 1 genes, has been described in typical Rubinstein-Taybi syndrome.

Fulltext Etanercept in the treatment of recalcitrant enteropathic arthritis: a case report

Mohamed Said MS, Shaharir S, Rajalingham S, Abdullah SA, Bin Hassanudin A, Soon NC, et al.

J Med Case Rep, 2012;6:10.

PMID: 22236863 DOI: 10.1186/1752-1947-6-10

Enteropathic arthritis is one of the recognized extraintestinal manifestations of inflammatory bowel disease and affects up to 25% of patients. The treatment options for refractory disease were rather limited and ineffective until the arrival of biologic therapy in the last few years. The use of etanercept was unique for this disease.

Fulltext Purtscher-like retinopathy following valsalva maneuver effect: case report

Nor-Masniwati S, Azhany Y, Zunaina E

J Med Case Rep, 2011;5:338.

PMID: 21806816 DOI: 10.1186/1752-1947-5-338

Purtscher's retinopathy is a rare condition that is noted in cases related to various types of trauma. The characteristic finding in the fundus is the presence of multiple Purtscher flecken. Purtscher-like retinopathy has a similar presentation in the fundus, but without an association with trauma.

Fulltext Bilateral hypoplasia of the internal carotid artery, presenting as a subarachnoid hemorrhage secondary to intracranial aneurysmal formation: a case report

Siddiqui AA, Sobani ZA

J Med Case Rep, 2012;6:45.

PMID: 22289362 DOI: 10.1186/1752-1947-6-45

Hypoplasia of the internal carotid artery is a rare congenital anomaly, with only 24 cases of bilateral internal carotid artery hypoplasia reported to date. Here, we present the case of a 48-year-old woman with bilateral internal carotid artery hypoplasia. She had a collateral circulation through the vertebrobasilar system; however given the high pressure flow she developed aneurysmal formations in the posterior communicating artery. To the best of our knowledge, only seven reported cases of internal carotid artery hypoplasia have been associated with intracranial aneurysmal formations.

Fulltext Tracheal agenesis as a rare cause of difficult intubation in a newborn with respiratory distress: a case report

Ahmad R, Abdullah K, Mokhtar L, Fadzil A

J Med Case Rep, 2009;3:105.

PMID: 19946583 DOI: 10.1186/1752-1947-3-105

Tracheal agenesis is a very rare congenital airway anomaly. It may pose a great challenge to the first attending physician both in diagnosis and in establishing the airway during the first day of life.

Fulltext Extragonadal germ cell tumor presenting in a woman with systemic lupus erythematosus: a case report

Shahrir M, Halim A, Zainudin S, Mohamad R, Yuen LC, Saidin R, et al.

J Med Case Rep, 2010;4:97.

PMID: 20338049 DOI: 10.1186/1752-1947-4-97

Germ cell tumor of the pituitary gland is a very rare occurrence.

Fulltext Combined use of maxillomandibular swing approach and neurosurgical ultrasonic aspirator in the management of extensive clival chordoma: a case report

Hassan S, Abdullah JM, Wan Din SJ, Idris Z

J Med Case Rep, 2008;2:49.

PMID: 18279530 DOI: 10.1186/1752-1947-2-49

Chordoma is a rare malignant tumour with an incidence of metastasis of less than 10 percent. Usually arising from clivus its posterior extension may involve the brainstem before presenting as nasal mass and obstruction. Surgery is the main mode of treatment with adjuvant radiotherapy. However surgery is rarely possible for a large intracranial lesion.

Acute compartment syndrome of the hand in Henoch-Schonlein Purpura

Luis GE, Ng ES

J Med Case Rep, 2007;1:6.

PMID: 17411454

An eight year old boy with Henoch-Schonlein Purpura (HSP) presented with acute compartment syndrome (ACS) of his left hand following arterial cannulation of his radial artery in intensive care unit. Emergency decompression and fasciotomy were performed. The authors report this first case in literature and discuss how HSP can be complicated by ACS and ways to prevent the latter from happening.

Fulltext Reconstruction of advanced bone defect associated with severely compromised maxillary anterior teeth in aggressive periodontitis: a case report

Kamil W, Al Bayati L, Hussin AS, Hassan H

J Med Case Rep, 2015;9:211.

PMID: 26404671 DOI: 10.1186/s13256-015-0677-6

Aggressive periodontitis is characterized by a rapid rate of attachment loss and bone resorption. Regenerative therapy offers reconstruction of the periodontium; however, certain advanced cases with a questionable prognosis might remain a challenge. We report a successful intervention outcome of a challenging case in the aesthetic zone of a patient with aggressive periodontitis.

Fulltext An uncommon and insidious presentation of renal cell carcinoma with tumor extending into the inferior vena cava and right atrium: a case report

Lu HT, Chong JL, Othman N, Vendargon S, Omar S

J Med Case Rep, 2016 May 03;10(1):109.

PMID: 27142514 DOI: 10.1186/s13256-016-0888-5

BACKGROUND: Renal cell carcinoma is a potentially lethal cancer with aggressive behavior and it tends to metastasize. Renal cell carcinoma involves the inferior vena cava in approximately 15% of cases and it rarely extends into the right atrium. A majority of renal cell carcinoma are detected as incidental findings on imaging studies obtained for unrelated reasons. At presentation, nearly 25% of patients either have distant metastases or significant local-regional disease with no symptoms that can be attributed to renal cell carcinoma.

CASE PRESENTATION: A 64-year-old Indian male with a past history of coronary artery bypass graft surgery, congestive heart failure, and diabetes mellitus complained of worsening shortness of breath for 2 weeks. Incidentally, a transthoracic echocardiography showed a "thumb-like" mass in his right atrium extending into his right ventricle through the tricuspid valve with each systole. Abdomen magnetic resonance imaging revealed a heterogenous lobulated mass in the upper and mid-pole of his right kidney with a tumor extending into his inferior vena cava and right atrium, consistent with our diagnosis of advanced renal cell carcinoma which was later confirmed by surgical excision and histology. Radical right nephrectomy, lymph nodes clearance, inferior vena cava cavatomy, and complete tumor thrombectomy were performed successfully. Perioperatively, he did not require cardiopulmonary bypass or deep hypothermic circulatory arrest. He had no recurrence during the follow-up period for more than 2 years after surgery.

CONCLUSIONS: Advanced extension of renal cell carcinoma can occur with no apparent symptoms and be detected incidentally. In rare circumstances, atypical presentation of renal cell carcinoma should be considered in a patient presenting with right atrial mass detected by echocardiography. Renal cell carcinoma with inferior vena cava and right atrium extension is a complex surgical challenge, but excellent results can be obtained with proper patient selection, meticulous surgical techniques, and close perioperative patient care.

Fulltext Managing burn wounds with SMARTPORE Technology polyurethane foam: two case reports

Imran FH, Karim R, Maat NH

J Med Case Rep, 2016;10(1):120.

PMID: 27170287 DOI: 10.1186/s13256-016-0918-3

Successful wound healing depends on various factors, including exudate control, prevention of microbial contaminants, and moisture balance. We report two cases of managing burn wounds with SMARTPORE Technology polyurethane foam dressing.

Fulltext Successful laparoscopic management of combined traumatic diaphragmatic rupture and abdominal wall hernia: a case report

Siow SL, Wong CM, Hardin M, Sohail M

J Med Case Rep, 2016 Jan 18;10:11.

PMID: 26781191 DOI: 10.1186/s13256-015-0780-8

Traumatic diaphragmatic rupture and traumatic abdominal wall hernia are two well-described but rare clinical entities associated with blunt thoracoabdominal injuries. To the best of our knowledge, the combination of these two clinical entities as a result of a motor vehicle accident has not been previously reported.

Fulltext A returning migrant worker with avian influenza A (H7N9) virus infection in Guizhou, China: a case report

Wang D, Tang G, Huang Y, Yu C, Li S, Zhuang L, et al.

J Med Case Rep, 2015;9:109.

PMID: 25962780 DOI: 10.1186/s13256-015-0580-1

Human infection with avian influenza A (H7N9) virus was first reported on March, 2013 in the Yangtze River Delta region of China. The majority of human cases were detected in mainland China; other regions out of mainland China reported imported human cases, including Hong Kong SAR, Taiwan (the Republic of China) and Malaysia, due to human transportation. Here, we report the first human case of H7N9 infection imported into Guizhou Province during the Spring Festival travel season in January 2014.

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